Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon.

Jaffal, Lama; Akhdar, Hanane; Joumaa, Hawraa; Ibrahim, Mariam; Chhouri, Zahraa; Assi, Alexandre; Helou, Charles; Lee, Hane; Seo, Go Hun; Joumaa, Wissam H; El Shamieh, Said

Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon.

Jaffal, Lama; Akhdar, Hanane; Joumaa, Hawraa; Ibrahim, Mariam; Chhouri, Zahraa; Assi, Alexandre; Helou, Charles; Lee, Hane; Seo, Go Hun; Joumaa, Wissam H; El Shamieh, Said.

Afiliação

Jaffal L; Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon.
Akhdar H; Department of Biological and Chemical Sciences, School of Arts and Sciences, Lebanese International University, Beirut, Lebanon.
Joumaa H; Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon.
Ibrahim M; Department of Biological and Chemical Sciences, School of Arts and Sciences, Lebanese International University, Beirut, Lebanon.
Chhouri Z; Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon.
Assi A; Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon.
Helou C; Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon.
Lee H; Retinal Service, Beirut Eye & ENT Specialist Hospital, Beirut, Lebanon.
Seo GH; Retinal Service, Beirut Eye & ENT Specialist Hospital, Beirut, Lebanon.
Joumaa WH; Rare Genetic Disease Research Center, 3billion Inc, Seoul, South Korea.
El Shamieh S; Rare Genetic Disease Research Center, 3billion Inc, Seoul, South Korea.

Front Genet ; 13: 864228, 2022.

Article em En | MEDLINE | ID: mdl-35651951

Palavras-chave

Usher syndrome; developing countries; genetics; mutation; next-generation sequencing; rare disease

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article